Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.E78insFs
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ESRP2

NM_024939.3:p.E78insFs

Associated Papers

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

Sundal C et al.

Acta Neuropathologica Communications, 2019

31775912 (PubMed )
Supplement: 40478_2019_843_MOESM1_ESM.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."